Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

OBJECTIVE: To analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia. DESIGN AND METHODS: Data were obtained from...

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Detalles Bibliográficos
Autores principales: Saho, Robert, Dolzan, Vita, Zerjav Tansek, Mojca, Pastorakova, Andrea, Petrovic, Robert, Knapkova, Maria, Trebusak Podkrajsek, Katarina, Suput Omladic, Jasna, Bertok, Sara, Avbelj Stefanija, Magdalena, Kotnik, Primoz, Battelino, Tadej, Pribilincova, Zuzana, Groselj, Urh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064884/
https://www.ncbi.nlm.nih.gov/pubmed/37008950
http://dx.doi.org/10.3389/fendo.2023.1134133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064884/
https://www.ncbi.nlm.nih.gov/pubmed/37008950
http://dx.doi.org/10.3389/fendo.2023.1134133

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